Canonical Allele Identifier: CA413603485

Gene: ATP7A PGK1

Linked Data

• ClinVar Variation Id: 437459
• ClinVar RCV Id: RCV000502988
• dbSNP Id: rs1557237050
• MyVariant Identifiers: chrX:g.77286926G>A (hg19) ; chrX:g.78031428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78031428G>A , CM000685.2:g.78031428G>A	GRCh38
NC_000023.10:g.77286926G>A , CM000685.1:g.77286926G>A	GRCh37
NC_000023.9:g.77173582G>A	NCBI36
NG_013224.2:g.125732G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.3170G>A (ATP7A)	ENSP00000343026.6:p.Gly1057Glu
ENST00000682475.1:n.1557G>A (ATP7A)
ENST00000685033.1:c.404G>A (ATP7A)	ENSP00000509269.1:p.Gly135Glu
ENST00000685264.1:c.3140G>A (ATP7A)	ENSP00000510136.1:p.Gly1047Glu
ENST00000686033.1:c.2945G>A (ATP7A)	ENSP00000510693.1:p.Gly982Glu
ENST00000686133.1:c.3140G>A (ATP7A)	ENSP00000509233.1:p.Gly1047Glu
ENST00000686255.1:n.2171G>A (ATP7A)
ENST00000686543.1:c.2906G>A (ATP7A)	ENSP00000509477.1:p.Gly969Glu
ENST00000687086.1:c.3140G>A (ATP7A)	ENSP00000509566.1:p.Gly1047Glu
ENST00000689514.1:n.1182G>A (ATP7A)
ENST00000689767.1:c.3233G>A (ATP7A)	ENSP00000509406.1:p.Gly1078Glu
ENST00000692908.1:c.2906G>A (ATP7A)	ENSP00000508627.1:p.Gly969Glu
ENST00000341514.11:c.3140G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Gly1047Glu
ENST00000644362.1:c.-19-78439G>A (PGK1)	ENSP00000496140.1:n.-19-78439G>A
ENST00000645094.1:c.*3054G>A (ATP7A)	ENSP00000493605.1:n.*3054G>A
ENST00000341514.10:c.3140G>A (ATP7A)	ENSP00000345728.6:p.Gly1047Glu
ENST00000343533.9:c.2906G>A (ATP7A)	ENSP00000343026.5:p.Gly969Glu
ENST00000350425.5:c.*2313G>A (ATP7A)	ENSP00000343678.5:n.*2313G>A
NM_000052.6:c.3140G>A (ATP7A)	NP_000043.4:p.Gly1047Glu
NM_001282224.1:c.2906G>A (ATP7A)	NP_001269153.1:p.Gly969Glu
NR_104109.1:n.350G>A (ATP7A)
NM_000052.7:c.3140G>A (ATP7A) MANE Select	NP_000043.4:p.Gly1047Glu
NR_104109.2:n.313G>A (ATP7A)
NM_001282224.2:c.2906G>A (ATP7A)	NP_001269153.1:p.Gly969Glu